Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene

被引：14

作者：

Tanaka, Yasuyoshi ^{[1
]}

Sone, Takefumi ^{[2
]}

Higurashi, Norimichi ^{[3
]}

Sakuma, Tetsushi ^{[4
]}

Suzuki, Sadafumi ^{[2
]}

Ishikawa, Mitsuru ^{[2
]}

Yamamoto, Takashi ^{[4
]}

Mitsui, Jun ^{[5
]}

Tsuji, Hitomi ^{[5
,6
]}

Okano, Hideyuki ^{[2
]}

Hirose, Shinichi ^{[1
,7
]}

机构：

[1] Fukuoka Univ, Cent Res Inst Mol Pathomechanisms Epilepsy, Fukuoka, Japan

[2] Keio Univ, Sch Med, Dept Physiol, Tokyo, Japan

[3] Jikei Univ, Sch Med, Dept Pediat, Tokyo, Japan

[4] Hiroshima Univ, Grad Sch Sci, Dept Math & Life Sci, Hiroshima, Japan

[5] Univ Tokyo Hosp, Dept Neurol, Tokyo, Japan

[6] Univ Tokyo Hosp, Med Genome Ctr, Tokyo, Japan

[7] Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka, Japan

来源：

STEM CELL RESEARCH | 2018年 / 28卷

基金：

日本学术振兴会;

关键词：

D O I：

10.1016/j.scr.2018.01.036

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the alpha 1 subunit of the voltage-gated sodium channel Na(v)1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue. This artificial control iPSC line will be a powerful tool for research into the pathology of DS. (c) 2018 The Authors. Published by Elsevier B.V.

引用

页码：100 / 104

页数：5

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